Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172158 | SCV000051087 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Invitae | RCV000530822 | SCV000642543 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-11-17 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000172158 | SCV000855107 | uncertain significance | not provided | 2017-11-13 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001358750 | SCV001554601 | uncertain significance | not specified | 2021-03-25 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.95932C>T (p.Arg31978Cys) results in a non-conservative amino acid change located in the M-band region (cardiodb.org) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 6.8e-05 in 249128 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in TTN causing Dilated Cardiomyopathy (6.8e-05 vs 0.00039), allowing no conclusion about variant significance. c.95932C>T has been reported in the literature in at least one individual affected with Cardiomyopathy (e.g. Lopes_2013). This report does not provide unequivocal conclusions about association of the variant with Dilated Cardiomyopathy. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Both laboratories cited the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Gene |
RCV000172158 | SCV001776315 | likely benign | not provided | 2020-01-06 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23396983) |
Revvity Omics, |
RCV000172158 | SCV003827331 | uncertain significance | not provided | 2021-05-07 | criteria provided, single submitter | clinical testing |